Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001359080 | SCV001554941 | pathogenic | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg98*) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNA1 are known to be pathogenic (PMID: 32051609, 34425242). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1051089). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002438828 | SCV002748782 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-13 | criteria provided, single submitter | clinical testing | The p.R98* variant (also known as c.292C>T), located in coding exon 2 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 292. This changes the amino acid from an arginine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Myriad Genetics, |
RCV003136022 | SCV003806511 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-01-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |